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Article

Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.

Clinical genetics - 1 Apr 2020

Bakis Hugo, Trimouille Aurélien, Vermorel Agathe, Redonnet Isabelle, Goizet Cyril, Boulestreau Romain, Lacombe Didier, Combe Christian, Martin-Négrier Marie-Laure, Rigothier Claire

Abstract excerpt

Kidney is a highly adenosine triphosphate dependent organ in human body. Healthy and functional mitochondria are essential for normal kidney function. Clinical and genetic variability are the hallmarks of mitochondrial disorders. We report here the involvement of two MT-ND5 pathogenic variants encoding for ND5 subunit of respiratory chain complex I, the m.13513G>A and the m.13514A>G, in adult-onset kidney disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31713837
DOI: 10.1111/cge.13670

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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